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Flashcards in Cancer Deck (28):
1

3 types of cancer (family assessment)

1. sporadic (60%) 2. familial (30%) 3. hereditary (10%)

2

BRCA1/2 associated cancers (5)

breast (male & female) ovary prostate pancreatic melanoma

3

CDH1 associated cancers

breast (lobular) diffuse gastric cancer (most likely to metastasize to nearby tissues or bones) prostate colon & rectum Somatic mutations associated with : endometrial, ovarian, and prostate

4

HNPCC (Lynch syndrome) associated cancers (8)

colorectal uterine ovarian stomach gall bladder urinary tract small bowel brain/CNS

5

PTEN associated cancers (5) & other findings

breast kidney thyroid uterine colon other findings: hamartomatous overgrowth & skin lesions

6

Bannayan-Riley-Ruvalcaba syndrome

PTEN mutation clinical features: -macrocephaly -hamartomatous intestinal polyps -lipomas -hemangiomas -pigmented penile macules -DD -large birth weight -joint hyperextensibility -myopathic process in proximal muscles -Hoshimoto's thyroiditis -multinodular goiter -thyroid adenoma non-medullary thyroid cancer

7

Proteus syndrome

PTEN mutation -ovarian cystadenomas, testicular tumors, menangiomas, monomorphic adenomas of parotid gland -hamartomatous tissue overgrowth -congenital malformation -hyperostosis (excessive growth of bone) -epidermal and connective tissue nevi which occur in a mosaic pattern

8

Lhermitte-Duclos disease

dysplastic gangliocytoma of the cerebellum adult onset occurs in patients with germline PTEN mutations (Tumor of the cerebellum)

9

STK11 associated cancers (8)

small intestine stomach pancreas colon esophagus breast lung ovary

10

Peutz-Jeghers syndrome

STK11 mutation hamartomatous polyps of the GI tract (small intestine, colon, stomach & rectum) mucocutaneous pigmentation

11

TP53 associated cancers (5)

sarcoma adrenocortical carcinoma breast leukemia brain tumors

12

Li-Fraumeni

TP53 mutation AD CHEK2 gene mutation (sometimes) childhood/young adult onset

13

ATM associated cancers (6)

breast stomach bladder pancreas lung ovary

14

ataxia-telangiectasia

ATM homozygous mutation hypersensitive to radiation

15

PALB2 associated cancers (2)

breast (male & female) ovary

16

Fanconi anemia

BRCA2, BRIP1, PALB2 and FANC genes homozygous -congenital malformations of the heart, renal system, and limbs -dermal pigmentary changes -predisposition to development of malignancies -progressive bone marrow failure resulting in anemia, leukopenia, and thrombopenia -hypersensitivity to DNA crosslinking agents

17

CHEK2 associated cancers (9)

breast prostate lung colon kidney thyroid ovary brain tumors osteosarcoma

18

Cowden syndrome associated cancers, gene, & features

PTEN mutation breast, kidney, thyroid (follicular), uterine & colon cancers associated features: -enlarged head -acral keratoses -oral papilomas -lipoma -colon polyps -thyroid nodules

19

Lynch syndrome (HNPCC) associated genes

MLH1, MSH2, MSH6, PMS2, EPCAM

20

Familial Adenomatous Polyposis associated gene & features

APC gene mutation features: -CHRPE epidermoid cysts supernumerary teeth duodenal polyposis >100 colorectal adenomatous polyps

21

FAP associated cancers

colorectal other associated cancers: thyroid brain hepatoblastoma osteoma desmoid tumor adrenal gland adenoma duodenal adenoma

22

Attenuated FAP (AFAP) associated gene, cancers & features

APC gene colorectal cancer 3-99 adenomas

23

MUTYH adenomatous polyposis associated gene & features

MUTYH gene features: CHRPE 20-100 colorectal adenomatous polyps Autosomal recessive

24

MUTYH adenomatous polyposis associated cancers

Colorectal other cancers: duodenal osteomas ovary bladder skin breast

25

Juvenile polyposis syndrome associated genes & features

SMAD4 & BMPR1A genes other features: >3-5 juvenile polyps in colorectum or GI tract

SMAD4 also involved in HHT

26

Juvenile polyposis syndrome associated cancers

colorectal other cancers: stomach small intestine pancreas

27

Hyperplastic polyposis syndrome associated genes, cancer & features

KRAS & BRAF genes colorectal cancer features: large, right-sided polyps (KRAS) many small, left-sided polyps (BRAF)

These genes are also involved in Noonan syndrome

28

Hereditary mixed polyposis syndrome associated genes, cancer & features

SCG5 & GREM1 genes colorectal cancer other features: mixed histology polyps including hyperplastic, adenomatous, and juvenile polyps